CAJ | 학술논문

目的探讨青少年发病的成年型糖尿病2型(MODY2)的临床特点及基因突变特点.方法回顾性分析l例MODY2患儿的临床特点,对家系进行糖尿病筛查,并行葡萄糖激酶基因(GCK)PCR扩增后直接测序,对患儿进行随访.结果患儿男,9岁6个月,因“身高增长缓慢4年”就诊于广州市妇女儿童医疗中心,检查发现空腹血糖升高(7.4 ～7.8 mmol/L),糖化血红蛋白6.7％.身高122 cm(-2s),体重25 kg(-1s),体质指数(BMI) 16.8 kg/m2,口服葡萄糖耐量试验(OGTT)中空腹血糖8.17 m mol/L,胰岛素＜2.0 mU/L,2h血糖8.69 mmol/L,胰岛素5.06 mU/L,初诊为早期1型糖尿病,给予胰岛素注射治疗半年,随诊监测空腹血糖5.6 ～ 8.5 mmol/L,糖化血红蛋白6.7％～6.8％.患儿母亲空腹血糖6.86 mmol/L,OGTT 2 h血糖10.36 mmol/L,糖化血红蛋白6.8％.家系GCK突变分析发现:患儿及其母亲GCK第1外显子上c.34_44+ 15del26杂合缺失突变,该突变与糖尿病共分离.患儿停用胰岛素,仅饮食控制,运动治疗,每3个月复诊,现已随访2年半,空腹血糖4.6～8.0 mmol/L,糖化血红蛋白6.8％～7.1％.结论 MODY2表现为数月或数年内持续而稳定的空腹高血糖,OGTT 2 h血糖较空腹血糖仅轻度升高(＜3 mmol/L);在MODY2家系中发现了GCK第1外显子上的新突变c.34_44+ 15del26,该突变与糖尿病共分离.
목적 탐토청소년발병적성년형당뇨병2형(MODY2)적림상특점급기인돌변특점.방법 회고성분석l례MODY2환인적림상특점,대가계진행당뇨병사사,병행포도당격매기인(GCK)PCR확증후직접측서,대환인진행수방.결과 환인남,9세6개월,인“신고증장완만4년”취진우엄주시부녀인동의료중심,검사발현공복혈당승고(7.4 ～7.8 mmol/L),당화혈홍단백6.7％.신고122 cm(-2s),체중25 kg(-1s),체질지수(BMI) 16.8 kg/m2,구복포도당내량시험(OGTT)중공복혈당8.17 m mol/L,이도소＜2.0 mU/L,2h혈당8.69 mmol/L,이도소5.06 mU/L,초진위조기1형당뇨병,급여이도소주사치료반년,수진감측공복혈당5.6 ～ 8.5 mmol/L,당화혈홍단백6.7％～6.8％.환인모친공복혈당6.86 mmol/L,OGTT 2 h혈당10.36 mmol/L,당화혈홍단백6.8％.가계GCK돌변분석발현:환인급기모친GCK제1외현자상c.34_44+ 15del26잡합결실돌변,해돌변여당뇨병공분리.환인정용이도소,부음식공제,운동치료,매3개월복진,현이수방2년반,공복혈당4.6～8.0 mmol/L,당화혈홍단백6.8％～7.1％.결론 MODY2표현위수월혹수년내지속이은정적공복고혈당,OGTT 2 h혈당교공복혈당부경도승고(＜3 mmol/L);재MODY2가계중발현료GCK제1외현자상적신돌변c.34_44+ 15del26,해돌변여당뇨병공분리.
Objective To explore the clinical and gene mutation characteristics of a child with maturity-onset diabetes of the young 2 (MODY2).Method The clinical and follow-up data of 1 patient with MODY2 were reviewed.GCK mutational analysis was performed by PCR and direct sequencing in the proband and his family members.Result The 9 years and 6 months old boy was referred to our department for short stature and mild hyperglycemia.His fasting blood glucose was elevated to 7.4-7.8 mmol/L,hemoglobin A1C 6.7％.His height was 122 cm (-2 s),weight 25 kg (-1 s),body mass index (BMI) 16.8 kg/m2.His physical exam was unremarkable without dysmorphic features or acanthosis nigricans.The oral glucose tolerance test (OGTT) showed fasting glucose 8.17 mmol/L,insulin ＜ 2.0 mU/L,2 h glucose 8.69 mmol/ L,insulin 5.06 mU/L.The boy was treated with insulin injection for half a year.His fasting blood glucose was stable at 5.6-8.5 mmol/L,hemoglobin A1C 6.7％-6.8％.His mother's fasting blood glucose was 6.86 mmol/L,OGTT 2 h blood glucose 10.36 mmol/L,hemoglobin A1C 6.8％.GCK sequence revealed a novel GCK mutation c.34_44 + 15del26 in the proband and his mother,which was co-segregated with diabetes.The boy's treatment was shifted from insulin injection to diet and exercise after the diagnosis of MODY2 was confirmed.Being followed up for 2 and a half years,his fasting blood glucose was stable at 4.6 -8.0 mmol/L and hemoglobin A1 C 6.8％-7.1％.Conclusion The clinical features of MODY2 are persistent and stable fasting hyperglycemia over a period of months or years and small blood glucose increment (less than 3 mmol/L) after an OGTT (2 h glucose-fasting glucose).We identified a novel c.34 _44 + 15del26 mutation in GCK which co-segregated with diabetes phenotype in this family.